RRM2B
Ribonucleotide Reductase Regulatory TP53-Inducible Subunit M2B
Gene Information Card
| Symbol | RRM2B |
|---|---|
| Full Name | Ribonucleotide Reductase Regulatory TP53-Inducible Subunit M2B |
| Gene Type | Protein coding |
| Chromosomal Location | 8q22.3 |
| NCBI Gene ID | 50484 ncbi.nlm.nih.gov/gene/50484 |
| Ensembl ID | ENSG00000148396 |
| UniProt ID | Q7LG56 |
| OMIM ID | 604712 |
| HGNC ID | 17296 |
| Aliases | p53R2, MTDPS8A, MTDPS8B |
Description
RRM2B encodes the small subunit (p53R2) of ribonucleotide reductase, which catalyzes the conversion of ribonucleoside diphosphates to deoxyribonucleoside diphosphates, essential for DNA synthesis and repair. The gene is directly regulated by p53 and is critical for mitochondrial DNA (mtDNA) maintenance. Mutations cause autosomal recessive mitochondrial DNA depletion syndromes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial DNA depletion syndrome 8A (MTDPS8A) | Loss-of-function mutations impair dNTP pool balance, leading to mtDNA depletion in muscle and brain | OMIM #612075 |
| Mitochondrial DNA depletion syndrome 8B (MTDPS8B) | Similar mechanism but with later onset and milder phenotype | OMIM #612075 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions | Dominant negative mutations cause multiple mtDNA deletions | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 8.5 | Medium |
| Heart | 7.2 | Medium |
| Brain | 6.1 | Medium |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.3 | High expression |
| HEK293 | 9.8 | Medium expression |
| HepG2 | 7.5 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.281G>A (p.Arg94His) | Missense | Rare | Loss of function; associated with MTDPS8A |
| c.419C>T (p.Thr140Met) | Missense | Rare | Dominant negative; causes PEO |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of function; severe mtDNA depletion |
Mutation functional classification
Loss of Function (LOF)
Impaired dNTP synthesis leads to mtDNA depletion and mitochondrial dysfunction.
Gain of Function (GOF)
Not reported for RRM2B.
Dominant Negative (DN)
Mutant p53R2 interferes with wild-type subunit, causing multiple mtDNA deletions.
View complete mutation data：
Gene Ontology (GO)
| • ribonucleoside-diphosphate reductase activity | • deoxyribonucleotide biosynthetic process |
| • mitochondrial DNA replication | • DNA repair |
| • p53 binding |
Pathways
• Ribonucleotide reductase pathway
• p53 signaling pathway
• Mitochondrial DNA replication
Protein Summary
The RRM2B protein (p53R2) is a 351-amino acid subunit of ribonucleotide reductase. It forms a heterodimer with RRM1 to provide dNTPs for nuclear and mitochondrial DNA synthesis. p53R2 is induced by DNA damage via p53 and is essential for mtDNA maintenance. Mutations lead to dNTP pool imbalance and mitochondrial disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RRM2B Knockout HEK293 Cell Line | EDJ-KQ2101 | Human | 50484 | Details Get a Quote |
| RRM2B Knockout A-549 Cell Line | EDJ-KQ22210 | Human | 50484 | Details Get a Quote |
| RRM2B Knockout HCT 116 Cell Line | EDJ-KQ22211 | Human | 50484 | Details Get a Quote |
| RRM2B Knockout HeLa Cell Line | EDJ-KQ22212 | Human | 50484 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
